Canonical Allele Identifier: CA370089056

Gene: KMT2C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148031A>C , CM000669.2:g.152148031A>C	GRCh38
NC_000007.13:g.151845116A>C , CM000669.1:g.151845116A>C	GRCh37
NC_000007.12:g.151476049A>C	NCBI36
NG_033948.1:g.292975T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_170606.3:c.13894+2T>G MANE Select	NP_733751.2:n.13894+2T>G
ENST00000262189.11:c.13894+2T>G MANE Select	ENSP00000262189.6:n.13894+2T>G
NM_170606.2:c.13894+2T>G	NP_733751.2:n.13894+2T>G
ENST00000262189.10:c.13894+2T>G	ENSP00000262189.6:n.13894+2T>G
ENST00000355193.6:c.13894+2T>G	ENSP00000347325.3:n.13894+2T>G
ENST00000360104.7:c.6575+2T>G
ENST00000360104.8:c.9681+2T>G
ENST00000418061.2:c.4536+2T>G
ENST00000424877.5:c.3745+2T>G	ENSP00000410411.1:n.3745+2T>G
ENST00000424877.6:c.4470+2T>G
ENST00000473186.5:n.11776+2T>G
ENST00000558084.5:c.*11414+2T>G	ENSP00000453752.1:n.*11414+2T>G
ENST00000679393.1:n.8605+2T>G
ENST00000679560.1:c.8794+2T>G	ENSP00000505094.1:n.8794+2T>G
ENST00000679567.1:n.379+2T>G
ENST00000679882.1:c.13459+2T>G	ENSP00000506154.1:n.13459+2T>G
ENST00000680029.1:c.4471+2T>G
ENST00000680877.1:c.8794+2T>G	ENSP00000505724.1:n.8794+2T>G
ENST00000681923.1:n.2909+2T>G
ENST00000682040.1:c.2082+2T>G
ENST00000682116.1:n.3026+2T>G
ENST00000682283.1:c.14065+2T>G	ENSP00000507485.1:n.14065+2T>G
ENST00000682629.1:n.3194+2T>G
ENST00000683120.1:n.9086+2T>G
ENST00000683178.1:c.4467+2T>G
ENST00000683200.1:c.11404+2T>G	ENSP00000508052.1:n.11404+2T>G
ENST00000683337.1:n.5524+2T>G
ENST00000683502.1:c.4539+2T>G
ENST00000683621.1:n.2660+2T>G
ENST00000683640.1:n.2610+2T>G
ENST00000684261.1:c.8791+2T>G	ENSP00000508097.1:n.8791+2T>G
ENST00000684391.1:n.652+2T>G
ENST00000684649.1:c.4539+2T>G
XM_005250025.3:c.14110+2T>G	XP_005250082.1:n.14110+2T>G
XM_005250025.4:c.14110+2T>G	XP_005250082.1:n.14110+2T>G
XM_005250026.2:c.14107+2T>G	XP_005250083.1:n.14107+2T>G
XM_005250026.3:c.14107+2T>G	XP_005250083.1:n.14107+2T>G
XM_005250027.3:c.14107+2T>G	XP_005250084.1:n.14107+2T>G
XM_005250027.4:c.14107+2T>G	XP_005250084.1:n.14107+2T>G
XM_005250028.3:c.14110+2T>G	XP_005250085.1:n.14110+2T>G
XM_005250028.4:c.14110+2T>G	XP_005250085.1:n.14110+2T>G
XM_005250031.3:c.13945+2T>G	XP_005250088.1:n.13945+2T>G
XM_005250031.4:c.13945+2T>G	XP_005250088.1:n.13945+2T>G
XM_006716077.2:c.14107+2T>G	XP_006716140.1:n.14107+2T>G
XM_006716077.3:c.14107+2T>G	XP_006716140.1:n.14107+2T>G
XM_006716078.2:c.14038+2T>G	XP_006716141.1:n.14038+2T>G
XM_006716078.3:c.14038+2T>G	XP_006716141.1:n.14038+2T>G
XM_006716079.2:c.13942+2T>G	XP_006716142.1:n.13942+2T>G
XM_006716079.3:c.13942+2T>G	XP_006716142.1:n.13942+2T>G
XM_011516450.1:c.14062+2T>G	XP_011514752.1:n.14062+2T>G
XM_011516450.2:c.14062+2T>G	XP_011514752.1:n.14062+2T>G
XM_011516451.1:c.13990+2T>G	XP_011514753.1:n.13990+2T>G
XM_011516451.2:c.13990+2T>G	XP_011514753.1:n.13990+2T>G
XM_011516452.1:c.13957+2T>G	XP_011514754.1:n.13957+2T>G
XM_011516452.2:c.13957+2T>G	XP_011514754.1:n.13957+2T>G
XM_011516453.1:c.13873+2T>G	XP_011514755.1:n.13873+2T>G
XM_011516453.2:c.13873+2T>G	XP_011514755.1:n.13873+2T>G
XM_011516454.1:c.13195+2T>G	XP_011514756.1:n.13195+2T>G
XM_011516454.2:c.13195+2T>G	XP_011514756.1:n.13195+2T>G
XM_011516455.1:c.11656+2T>G	XP_011514757.1:n.11656+2T>G
XM_011516456.1:c.14062+2T>G	XP_011514758.1:n.14062+2T>G
XM_011516456.2:c.14062+2T>G	XP_011514758.1:n.14062+2T>G
XM_017012480.1:c.14110+2T>G	XP_016867969.1:n.14110+2T>G
XM_017012481.1:c.14107+2T>G	XP_016867970.1:n.14107+2T>G
XM_017012482.1:c.14107+2T>G	XP_016867971.1:n.14107+2T>G
XM_017012483.1:c.14107+2T>G	XP_016867972.1:n.14107+2T>G
XM_017012484.1:c.14077+2T>G	XP_016867973.1:n.14077+2T>G
XM_017012485.1:c.14059+2T>G	XP_016867974.1:n.14059+2T>G
XM_017012486.1:c.14035+2T>G	XP_016867975.1:n.14035+2T>G
XM_017012487.1:c.13963+2T>G	XP_016867976.1:n.13963+2T>G
XM_017012488.1:c.13927+2T>G	XP_016867977.1:n.13927+2T>G
XM_017012489.1:c.10780+2T>G	XP_016867978.1:n.10780+2T>G
XM_017012490.2:c.10384+2T>G	XP_016867979.1:n.10384+2T>G
XM_024446852.1:c.14107+2T>G	XP_024302620.1:n.14107+2T>G
XM_024446853.1:c.14035+2T>G	XP_024302621.1:n.14035+2T>G